Canonical Allele Identifier: CA2039016210

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764124C= , CM000674.2:g.57764124C=	GRCh38
NC_000012.11:g.58157907C= , CM000674.1:g.58157907C=	GRCh37
NC_000012.10:g.56444174C=	NCBI36
NG_007076.1:g.8070G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1270G=	ENSP00000518840.1:p.Val424=
ENST00000713545.1:c.*194G=	ENSP00000518841.1:n.*194G=
ENST00000228606.9:c.1189G= MANE Select	ENSP00000228606.4:p.Val397=
ENST00000228606.8:c.1189G=	ENSP00000228606.4:p.Val397=
ENST00000547344.5:n.1328G=
NM_000785.3:c.1189G=	NP_000776.1:p.Val397=
NM_000785.4:c.1189G= MANE Select	NP_000776.1:p.Val397=